KRTAP7-1

Summary

KRTAP7-1 (keratin associated protein 7-1, HGNC:18934) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 7-1 (Q8IUC3). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-link….

Predicted to be located in intermediate filament.

Source: NCBI Gene 337878 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_181606

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18934
Approved symbol	KRTAP7-1
Name	keratin associated protein 7-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP7.1
Ensembl gene	ENSG00000274749
Ensembl biotype	protein_coding
Entrez	337878

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000621162

RefSeq mRNA: 1 — MANE Select: NM_181606 NM_181606

CCDS: CCDS74780

Canonical transcript exons

ENST00000621162 — 1 exons

Exon	Start	End
ENSE00003748555	30829039	30829759

Expression profiles

Bgee: expression breadth broad, 29 present calls, max score 84.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2025 / max 46.0796, expressed in 68 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190130	0.2025	68

Top tissues by expression

205 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	84.62	gold quality
sperm	CL:0000019	60.46	gold quality
buccal mucosa cell	CL:0002336	59.87	gold quality
upper leg skin	UBERON:0004262	53.31	gold quality
skin of hip	UBERON:0001554	52.24	silver quality
heart right ventricle	UBERON:0002080	45.95	gold quality
superior surface of tongue	UBERON:0007371	44.67	gold quality
pharyngeal mucosa	UBERON:0000355	43.71	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
nipple	UBERON:0002030	43.11	gold quality
tongue	UBERON:0001723	42.84	gold quality
body of tongue	UBERON:0011876	42.81	gold quality
penis	UBERON:0000989	42.66	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
gingiva	UBERON:0001828	42.21	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
oviduct epithelium	UBERON:0004804	41.15	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
skin of abdomen	UBERON:0001416	40.26	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	19.99
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting KRTAP7-1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-873-3P	96.84	66.09	786
HSA-MIR-632	96.08	67.17	798
HSA-MIR-1231	95.10	65.63	663

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap7-1	ENSMUSG00000056706
rattus_norvegicus	Krtap7-1	ENSRNOG00000043017

Protein

Protein identifiers

Keratin-associated protein 7-1 — Q8IUC3 (reviewed: Q8IUC3)

Alternative names: High tyrosine-glycine keratin-associated protein 7.1

All UniProt accessions (1): Q8IUC3

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit / interactions. Interacts with hair keratins.

Tissue specificity. Expressed in the upper portion of the hair cortex.

Similarity. Belongs to the KRTAP type 7 family.

RefSeq proteins (1): NP_853637* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020184	KRTAP7	Family

Pfam: PF15034

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUC3-F1	37.07	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, SRSF9_TARGET_GENES, MIR1252_5P, MIR1208, MIR4728_3P, MIR409_3P, MIR873_3P, GSE16522_MEMORY_VS_NAIVE_CD8_TCELL_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_12H_ACT_CD4_TCELL_DN, GSE9946_LISTERIA_INF_MATURE_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_UP, GSE12707_AT16L1_HYPOMORPH_VS_WT_THYMUS_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): intermediate filament (GO:0005882)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP7-1	KRTAP24-1	Q3LI83	841
KRTAP7-1	KRTAP8-1	Q8IUC2	821
KRTAP7-1	KRTAP11-1	Q8IUC1	793
KRTAP7-1	KRTAP20-1	Q3LI63	780
KRTAP7-1	KRTAP20-2	Q3LI61	776
KRTAP7-1	KRTAP6-2	Q3LI66	773
KRTAP7-1	KRTAP13-3	Q3SY46	773
KRTAP7-1	KRTAP15-1	Q3LI76	767
KRTAP7-1	KRTAP13-1	Q8IUC0	754
KRTAP7-1	SCYGR1	A0A286YEY9	720
KRTAP7-1	KRTAP22-1	Q3MIV0	708
KRTAP7-1	KRTAP6-1	Q3LI64	701
KRTAP7-1	KRTAP26-1	Q6PEX3	697
KRTAP7-1	KRTAP21-3	Q3LHN1	670
KRTAP7-1	KRTAP6-3	Q3LI67	662

IntAct

112 interactions, top by confidence:

A	B	Type	Score
ZIC1	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
C1orf94	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
VPS37C	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
TLX3	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
GATA2	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
GCM2	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
FOXH1	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	PRR13	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	TCF7L2	psi-mi:“MI:0915”(physical association)	0.560
	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
OTX1	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
CRYBA2	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	MYOZ3	psi-mi:“MI:0915”(physical association)	0.560
HNRNPF	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	CELF5	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	TEKT4	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
PITX1	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
ROR2	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	RNF38	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	TOLLIP	psi-mi:“MI:0915”(physical association)	0.560
TLE5	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
CREB5	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	KRTAP7-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	YTHDF1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP7-1	PITX2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (37): KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid), KRTAP7-1 (Two-hybrid)

ESM2 similar proteins: B3A0P1, C4NZN9, H2A0K8, H2A0K9, H2A0M6, H2A0P1, O08633, P02847, P04459, P05685, P08827, P08828, P08829, P08914, P08915, P08916, P08917, P11994, P13427, P13531, P13532, P25692, P27781, P50438, P86788, P86949, P86950, P86951, P86960, Q05904, Q17212, Q17213, Q17214, Q17217, Q26264, Q54BZ4, Q54BZ5, Q54DB0, Q54VB7, Q54WZ8

Diamond homologs: Q28580, Q8IUC3, Q9D3I6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

5 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

246 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30829490:C:CT	donor_gain	0.9300
21:30829491:C:CT	donor_gain	0.9100
21:30829489:A:AC	donor_gain	0.8100
21:30829526:C:CT	donor_gain	0.8100
21:30829487:C:CT	donor_gain	0.8000
21:30829488:T:TT	donor_gain	0.8000
21:30829524:TAC:T	donor_gain	0.8000
21:30829527:C:CT	donor_gain	0.8000
21:30829659:AT:A	donor_gain	0.7800
21:30829523:C:CT	donor_gain	0.7600
21:30829524:T:TT	donor_gain	0.7600
21:30829525:A:AC	donor_gain	0.7600
21:30829384:C:CC	acceptor_gain	0.7500
21:30829488:TAC:T	donor_gain	0.7500
21:30829660:T:TA	donor_gain	0.7400
21:30829486:G:C	donor_gain	0.7300
21:30829221:T:TA	donor_gain	0.7200
21:30829675:T:TA	donor_gain	0.7200
21:30829386:G:C	acceptor_gain	0.7100
21:30829564:T:TA	donor_gain	0.7100
21:30829284:C:CT	acceptor_gain	0.6900
21:30829600:A:AT	donor_gain	0.6900
21:30829311:A:T	acceptor_gain	0.6700
21:30829381:GTTCT:G	acceptor_loss	0.6700
21:30829382:TTCTG:T	acceptor_loss	0.6700
21:30829383:TCTG:T	acceptor_loss	0.6700
21:30829384:CTGTG:C	acceptor_loss	0.6700
21:30829385:T:A	acceptor_loss	0.6700
21:30829522:G:GC	donor_gain	0.6700
21:30829337:C:T	acceptor_gain	0.6500

AlphaMissense

561 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30829684:G:C	F5L	0.963
21:30829684:G:T	F5L	0.963
21:30829686:A:G	F5L	0.963
21:30829444:G:C	S85R	0.959
21:30829444:G:T	S85R	0.959
21:30829446:T:G	S85R	0.959
21:30829473:A:G	W76R	0.954
21:30829473:A:T	W76R	0.954
21:30829666:G:C	F11L	0.948
21:30829666:G:T	F11L	0.948
21:30829668:A:G	F11L	0.948
21:30829453:A:C	F82L	0.946
21:30829453:A:T	F82L	0.946
21:30829455:A:G	F82L	0.946
21:30829647:C:A	G18W	0.940
21:30829636:G:C	F21L	0.935
21:30829636:G:T	F21L	0.935
21:30829638:A:G	F21L	0.935
21:30829451:C:T	G83D	0.932
21:30829606:G:C	N31K	0.927
21:30829606:G:T	N31K	0.927
21:30829590:C:G	G37R	0.925
21:30829624:G:C	F25L	0.922
21:30829624:G:T	F25L	0.922
21:30829626:A:G	F25L	0.922
21:30829452:C:G	G83R	0.919
21:30829471:C:A	W76C	0.919
21:30829471:C:G	W76C	0.919
21:30829470:C:G	G77R	0.908
21:30829646:C:T	G18E	0.906

dbSNP variants (sampled 300 via entrez): RS1000030313 (21:30828984 T>C), RS1002399460 (21:30830626 G>A), RS1004800276 (21:30828715 C>A,T), RS1005507473 (21:30831466 G>A,T), RS1005602190 (21:30830967 T>C), RS1005841407 (21:30829999 A>G), RS1005853120 (21:30829400 T>C), RS1006115783 (21:30829090 C>G), RS1010031129 (21:30829600 A>G,T), RS1012366324 (21:30829529 C>T), RS1012762834 (21:30828970 C>A,T), RS1013352063 (21:30830329 T>C), RS1014194845 (21:30830016 C>A), RS1014638608 (21:30829663 T>A,C), RS1015122798 (21:30830009 A>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.